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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:congenital stationary night blindness 1B
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Accession:DOID:0110865 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: CSNB, COMPLETE, AUTOSOMAL RECESSIVE;   CSNB1B;   congenital stationary night blindness 1B autosomal recessive;   congenital stationary night blindness, complete, autosomal recessive;   congenital stationary night blindness, type 1B
 primary_id: OMIM:257270
 alt_id: RDO:0008418
For additional species annotation, visit the Alliance of Genome Resources.



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congenital stationary night blindness 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1B OMIM
ClinVar
PMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 More... NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
JBrowse link
G Znf454 zinc finger protein 454 ISO ClinVar Annotator: match by term: Congenital stationary night blindness 1B ClinVar PMID:11874764 PMID:15781871 PMID:16249515 PMID:16622103 PMID:17405131 More... NCBI chr10:35,183,729...35,200,450
Ensembl chr10:35,185,028...35,245,505
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital stationary night blindness 25
        congenital stationary night blindness 1B 2
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          eye disease 2936
            Vision Disorders 267
              night blindness 31
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    congenital stationary night blindness 1B 2
paths to the root